Retinitis pigmentosa (RP) is a group of hereditary disorders that diffusely involve photoreceptors and pigmental epithelial function with a prevalence of about 1:5000. All inheritance patterns are described and more than 45 genes causing RP have been reported that might explain the heterogenicity of clinical presentation. The majority of RP cases occurs isolated with disease process confined to the eyes but can be associated with systemic diseases. The hallmarks include nyctalopia, progressive visual field loss and abnormal electroretinography (ERG) and typical fundus findings. Cystoid macular edema (CME) is occasionally seen. Spectral-domain OCT (SD-OCT) might be a very helpful tool in evaluating the photoreceptors line integrity, predicting visual function and screenning for CME.


Ophthalmology Department, Centro Hospitalar do Porto Hospital Santo Antonio, Oporto, PORTUGAL.

Case report:

A 10 year old boy was referred to our department with complaints of progressive impairment in night vision first noticed 3 years before. He had been treated with occlusion therapy and spectacles for a strabismic and refractive amblyopia which was refractory to previous treatments. He was otherwise healthy with no relevant ophthalmological familiar history. His best corrected visual acuity was 3/10 in the right eye (RE) and 4/10 in the left eye (LE), with a constant exotropia and normal ocular motility. Biomicroscopy and tonometry were normal. Indirect ophthalmoscopy revealed bilateral waxy pallor of the optic disk, loss of foveal reflex with pigment deposition, areas of depigmentation and atrophy of the retinal pigment epithelium (RPE), narrowing of arterioles, and clumps of pigment in the peripheral retina and bone spicule-like pigment changes. SD-OCT revealed paracentral loss and central sparing of the photoreceptors line integrity and a small bilateral CME with no co mplaints of metamorphopsia. ERG showed a severe loss of both rod and cone signals. Kinetic perimetry recorded sparing of a central tunnel field of vision. A clinical examination to rule out syndromic RP and acquired causes of retinal degenerations that can mimic RP was undertaken. Family history and genetic evaluations are not yet fully elucidative of the inheritance pattern of this early onset and severe form of RP.


This case illustrates a severe and early onset RP in a child previously presumed to have a refractory strabismic and refractive amblyopia. The diagnosis of retinitis pigmentosa has a poor prognosis. Physicians should help patients to maximize their visual function and as new therapies emerge,routine evaluation can keep patients informed of clinical trials and new treatments under investigation and not losing hope in their future.